UniProtKB/Swiss-Prot Q96HY7: Variant p.Leu234Gly

2-oxoadipate dehydrogenase complex component E1
Gene: DHTKD1
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Variant information Variant position:

234 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Leucine (L) to Glycine (G) at position 234 (L234G, p.Leu234Gly). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and hydrophobic (L) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-4 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

In AAKAD; uncertain significance; requires 2 nucleotide substitutions. Any additional useful information about the variant.

Sequence information Variant position:

234 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

919 The length of the canonical sequence.
Location on the sequence:

ITDVIIGMPHRGRLNLLTGL L QFPPELMFRKMRGLSEFPEN The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         ITDVIIGMPHRGRLNLLTGLLQFPPELMFRKMRGLSEFPEN

Mouse                         ITDIIIGMPHRGRLNLLTGLLQLPPELMFRKMRGLSEFPEN

Rat                           ITDIIIGMPHRGRLNLLTGLLQLPPELMFRKMRGLSEFPEN

Xenopus laevis                VTDVIIGMPHRGRLNLLTGLLQFPPELMFRKMRGLSEFPEN

Zebrafish                     VTDVVMGMPHRGRLNLLTGLLQFPPELMFRKMRGLSEFPEH

Caenorhabditis elegans        VEEIIIGIAHRGRLNLLTQLMDFPPVHMFRKIKGRAEFPES

Drosophila                    IEHVVLAMPHRGRTPLQAALLNMRPAKVFRKLSGASEFSED

Slime mold                    LKNVVIGMPHRGRLNLLVQMCNYPAKDFFWKVKGNSEFSEG

Literature citations
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.
Hagen J.; te Brinke H.; Wanders R.J.; Knegt A.C.; Oussoren E.; Hoogeboom A.J.; Ruijter G.J.; Becker D.; Schwab K.O.; Franke I.; Duran M.; Waterham H.R.; Sass J.O.; Houten S.M.;
J. Inherit. Metab. Dis. 38:873-879(2015)
Cited for: VARIANTS AAKAD GLY-234; 437-GLU--ALA-919 DEL; GLN-455; LEU-773 AND PRO-777;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.